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GENATLAS PHENOTYPE
last update : 30-08-2011
Symbol OODD
Location 2q35
Name odonto-onycho-dermal dysplasia
Corresponding gene WNT10A
Main clinical features
  • dry hair, pilar keratosis, severe hypodontia, smooth tongue, onychodysplasia, palmar erythema, and keratoderma and hyperhidrosis of palms and soles
  • histology of the skin showed orthokeratotic, hyperkeratosis, hypergranulosis, and mild acanthosis in the epidermis
    • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein truncated protein of 232 AA, instead of 417 AA, that lacks the cysteine-rich prosite pattern PS50311, which is highly conserved in the WNT superfamily
    Remark(s)